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A case of true hermaphroditism reveals an unusual mechanism of twinning.
Souter VL, Parisi MA, Nyholt DR, Kapur RP, Henders AK, Opheim KE, Gunther DF, Mitchell ME, Glass IA, Montgomery GW. Souter VL, et al. Among authors: parisi ma. Hum Genet. 2007 Apr;121(2):179-85. doi: 10.1007/s00439-006-0279-x. Epub 2006 Dec 13. Hum Genet. 2007. PMID: 17165045
A Gender Assessment Team: experience with 250 patients over a period of 25 years.
Parisi MA, Ramsdell LA, Burns MW, Carr MC, Grady RE, Gunther DF, Kletter GB, McCauley E, Mitchell ME, Opheim KE, Pihoker C, Richards GE, Soules MR, Pagon RA. Parisi MA, et al. Genet Med. 2007 Jun;9(6):348-57. doi: 10.1097/gim.0b013e3180653c47. Genet Med. 2007. PMID: 17575501 Free article.
Joubert syndrome (and related disorders) (OMIM 213300).
Parisi MA, Doherty D, Chance PF, Glass IA. Parisi MA, et al. Eur J Hum Genet. 2007 May;15(5):511-21. doi: 10.1038/sj.ejhg.5201648. Epub 2007 Mar 21. Eur J Hum Genet. 2007. PMID: 17377524
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D. Gorden NT, et al. Among authors: parisi ma. Am J Hum Genet. 2008 Nov;83(5):559-71. doi: 10.1016/j.ajhg.2008.10.002. Epub 2008 Oct 23. Am J Hum Genet. 2008. PMID: 18950740 Free PMC article.
Genetics of Hirschsprung disease.
Parisi MA, Kapur RP. Parisi MA, et al. Curr Opin Pediatr. 2000 Dec;12(6):610-7. doi: 10.1097/00008480-200012000-00017. Curr Opin Pediatr. 2000. PMID: 11106284 Review.
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D. Slaats GG, et al. Among authors: parisi ma. J Med Genet. 2016 Jan;53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21. J Med Genet. 2016. PMID: 26490104 Free PMC article.
91 results